Beck–Fahrner syndrome
Beck–Fahrner syndrome, also known as BEFAHRS and TET3 deficiency, is a rare genetic disorder caused by mutations of the TET3 gene. The clinical presentation varies among individuals, but typically includes global developmental delay, slow progress in mental and physical activities, autism, decreased muscle tone, epilepsy and dysmorphic features.
| Beck–Fahrner syndrome | |
|---|---|
| Other names | BEFAHRS, TET3 deficiency |
| Facial features generally include a long face with a broad forehead, an open mouth appearance, arched eyebrows, and protruding ears. | |
| Specialty | Medical genetics, pediatrics |
| Symptoms | neurodevelopmental, psychiatric, neurologic, dysmorphic |
| Usual onset | Present at birth |
| Duration | Lifelong |
| Types | de novo, autosomal dominant |
| Causes | Mutations of the TET3 gene |
| Diagnostic method | Molecular diagnostics, genetic testing |
| Treatment | Supportive care |
| Named after | David B. Beck, Jill A. Fahrner |
Mutations in the TET3 gene disrupt DNA demethylation during embryogenesis, an essential epigenetic process contributing to the early development of the nervous system. They can occur from new genetic mutations or be inherited in an autosomal dominant manner. Diagnosis involves molecular and genetic testing in the context of typical symptoms. Management is supportive, aimed at improving quality of life. As of 2023, approximately 50 individuals have been diagnosed with Beck–Fahrner syndrome.